FOXI1

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FOXI1
Identifiers
AliasesFOXI1, FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, forkhead box I1
External IDsOMIM: 601093 MGI: 1096329 HomoloGene: 8140 GeneCards: FOXI1
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for FOXI1
Genomic location for FOXI1
Band5q35.1Start170,105,897 bp[1]
End170,109,734 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012188
NM_144769

NM_023907

RefSeq (protein)

NP_036320
NP_658982

NP_076396

Location (UCSC)Chr 5: 170.11 – 170.11 MbChr 11: 34.2 – 34.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.[5]

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. wo transcript variants encoding different isoforms have been found for this gene.[5]

Clinical significance[edit]

Mutations in this gene are associated with enlarged vestibular aqueduct.[6]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168269 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047861 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: Forkhead box I1". Retrieved 2011-12-24.
  6. ^ Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ (June 2007). "Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)". American Journal of Human Genetics. 80 (6): 1055–63. doi:10.1086/518314. PMC 1867094. PMID 17503324.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.